V63A (p.Val63Ala) variant of INS (Insulin)
V63A (p.Val63Ala) in INS (Insulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V63A (p.Val63Ala) variant details
- p.Val63Ala
- ExAC rs760240330
- TOPMed rs760240330
- gnomAD rs760240330
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.33
- MetaLR 0.37
- MetaSVM -0.70
- CADD 0.10
- PolyPhen-2 0.01
- SIFT 0.82
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.4e-05)
- Structural context available